Related gene-specific medical variations for Gene (Select 1809) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672156	NM_001197294.2(DPYSL3):c.655A>C (p.Ile219Leu)	DPYSL3 (I105L +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2555438	NM_001197294.2(DPYSL3):c.1297T>G (p.Ser433Ala)	DPYSL3, STK32A (S433A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392587	NM_001197294.2(DPYSL3):c.1900C>T (p.Arg634Trp)	STK32A, DPYSL3 (R520W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363579	NM_001197294.2(DPYSL3):c.2030G>A (p.Arg677His)	STK32A, DPYSL3 (R563H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357605	NM_001197294.2(DPYSL3):c.1701G>T (p.Met567Ile)	DPYSL3, STK32A (M453I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315656	NM_001197294.2(DPYSL3):c.1768G>A (p.Asp590Asn)	DPYSL3, STK32A (D590N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293588	NM_001197294.2(DPYSL3):c.1822G>A (p.Val608Ile)	STK32A, DPYSL3 (V494I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257053	NM_001197294.2(DPYSL3):c.1832G>T (p.Gly611Val)	STK32A, DPYSL3 (G611V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241102	NM_001197294.2(DPYSL3):c.1441G>A (p.Asp481Asn)	DPYSL3, STK32A (D367N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777398	NM_001197294.2(DPYSL3):c.1311-10C>T	DPYSL3, STK32A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 776074	NM_001197294.2(DPYSL3):c.1551G>C (p.Val517=)	DPYSL3, STK32A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711933	NM_001197294.2(DPYSL3):c.1809A>C (p.Ala603=)	DPYSL3, STK32A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign